ClinVar Miner

List of variants in gene GALT reported as pathogenic by OMIM

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.130G>A (p.Val44Met) rs111033647
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.580T>C (p.Phe194Leu) rs111033726
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800

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